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1.
PLoS One ; 15(3): e0229540, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32176704

RESUMO

As genetic testing technology advances, genetic testing will move into standard practice in the primary care setting. Genetic research, testing, and return of results are complex topics that require input from Alaska Native and American Indian (ANAI) communities as policies are developed for implementation. This study employed a day and half long public deliberation with ANAI primary care patients to elicit value-laden views of genetic research, testing, and return of results. Participants emphasized the need for a balance between the potential for genetics research, testing, and return of results to empower individuals and improve health with the potential to expose individuals and communities to privacy breaches, discrimination, and emotional harms. Public deliberation was well received by this group of participants and elicited rich discussion on the complex topic of genetic research, testing, and return of results.


Assuntos
Nativos do Alasca/psicologia , Testes Genéticos/ética , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Adulto , Alaska/etnologia , Feminino , Pesquisa em Genética/ética , Humanos , Masculino
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 219-225, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128736

RESUMO

The development of clinical practice guidelines for medical genetics and genomics specialty is a key step in translating basic and clinical genetic research into evidence-based and precision clinical services. This paper briefly expounds the principles of writing high-quality and trustworthy clinical practice guidelines. According to these principles, the management framework, writing process, review and revision procedures, and application monitoring of medical genetic specialty guidelines are described. Systematic review of relevant literature for evidence applicable to the screening, diagnosis, counseling, treatment and prevention of specific genetic diseases is summarized. Specific requirements for writing and reviewing high-quality professional guidelines for medical genetics are introduced. These principles and requirements can ensure that the evidence-based methods and recommendations in the written guidelines conform to current international standards and have specific clinical purposes, scope of practice and time-tracking mechanism. Implementation of such guidelines can promote the translation of basic and clinical genetic research, promote cooperation of medical genetics and other clinical specialties and coordination of interdisciplinary clinical practice guidelines, and provide effective and safe clinical services for patients and their families.


Assuntos
Genética Médica/normas , Genômica/normas , Guias de Prática Clínica como Assunto , Pesquisa em Genética , Humanos
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(2): 205-208, 2020 Feb 10.
Artigo em Chinês | MEDLINE | ID: mdl-32034756

RESUMO

With an estimated incidence of 1/40 000 to 1/4000, Gitelman syndrome is the most common type of inherited renal tubular disease during adolescence or adulthood. Characteristic features of Gitelman syndrome include transient episodes of muscle cramps and fatigue, hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Detection of SLC12A3 mutations, in conjunct with clinical manifestations, may confirm the diagnosis. Recent research suggested that CLCNKB may also be a candidate gene for Gitelman syndrome. Research on genotype-phenotype correlation has provided more information on the genetic etiology of Gitelman syndrome, which may facilitate the diagnosis and treatment for this syndrome and improve their prognosis.


Assuntos
Síndrome de Gitelman , Pesquisa em Genética , Humanos , Hipopotassemia , Mutação , Membro 3 da Família 12 de Carreador de Soluto
6.
PLoS One ; 14(12): e0219102, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31805048

RESUMO

BACKGROUND: Clustering of gene expression data is widely used to identify novel subtypes of cancer. Plenty of clustering approaches have been proposed, but there is a lack of knowledge regarding their relative merits and how data characteristics influence the performance. We evaluate how cluster analysis choices affect the performance by studying four publicly available human cancer data sets: breast, brain, kidney and stomach cancer. In particular, we focus on how the sample size, distribution of subtypes and sample heterogeneity affect the performance. RESULTS: In general, increasing the sample size had limited effect on the clustering performance, e.g. for the breast cancer data similar performance was obtained for n = 40 as for n = 330. The relative distribution of the subtypes had a noticeable effect on the ability to identify the disease subtypes and data with disproportionate cluster sizes turned out to be difficult to cluster. Both the choice of clustering method and selection method affected the ability to identify the subtypes, but the relative performance varied between data sets, making it difficult to rank the approaches. For some data sets, the performance was substantially higher when the clustering was based on data from only one sex compared to data from a mixed population. This suggests that homogeneous data are easier to cluster than heterogeneous data and that clustering males and females individually may be beneficial and increase the chance to detect novel subtypes. It was also observed that the performance often differed substantially between females and males. CONCLUSIONS: The number of samples seems to have a limited effect on the performance while the heterogeneity, at least with respect to sex, is important for the performance. Hence, by analyzing the genders separately, the possible loss caused by having fewer samples could be outweighed by the benefit of a more homogeneous data.


Assuntos
Análise por Conglomerados , Neoplasias/genética , RNA-Seq , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Análise de Dados , Conjuntos de Dados como Assunto , Feminino , Pesquisa em Genética , Humanos , Masculino , Pessoa de Meia-Idade , RNA Neoplásico , Tamanho da Amostra , Fatores Sexuais , Adulto Jovem
7.
Genet Test Mol Biomarkers ; 23(12): 857-864, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31718291

RESUMO

Introduction: Psychiatric genetic research has seen progress in identifying genetic risk variants associated with major mental disorders. Testing with preventive purposes is likely to be offered to high-risk individuals in the near future. It is important that genetic testing and counseling align with the interests of the patients, and these interests are likely to vary among countries and cultures. Aim: The present study aimed to compare the attitudes toward psychiatric genetic research and genetic testing in Denmark and Cuba. Materials and Methods: A survey, culturally adapted for each country, was administered to a pool of students, patients with depression, and the closest relatives of these patients. A total of 491 stakeholders from Denmark and 720 from Cuba were included in the study. Results: Significant differences between the two populations were found for general knowledge about psychiatric genetic research, whom to offer genetic testing, and to whom to entrust with psychiatric genetic information. Cuban stakeholders were more likely to feel uncomfortable about psychiatric genetic research than the Danish stakeholders. This difference might be driven by the characteristics of the health systems, sociocultural factors, and lower genetic literacy in the Cuban population. Conclusion: This study is the first to compare attitudes toward psychiatric genetic testing between a Latin American country and a Nordic country. The results reported could be valuable when designing general guidelines for psychiatric genetic testing in the future.


Assuntos
Testes Genéticos/ética , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Adolescente , Adulto , Idoso , Atitude , Cuba , Dinamarca , Depressão , Feminino , Privacidade Genética/ética , Pesquisa em Genética , Humanos , Masculino , Transtornos Mentais , Pessoa de Meia-Idade , Inquéritos e Questionários
8.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(11): 1136-1140, 2019 Nov 10.
Artigo em Chinês | MEDLINE | ID: mdl-31703145

RESUMO

Distal hereditary motor neuropathy (dHMN) is a group of clinically and genetically heterogeneous disorders characterized by progressive distal weakness and atrophy. The onset of dHMN is at mid-adulthood or early childhood, and the symptoms are mainly present in the lower limbs. Besides weakness and atrophy of distal limb muscles, some patients may develop bulbar paralysis, and some may also present with mild sensory disturbance. Decreased or absent tendon reflexes may be discovered. Electromyography may show neurogenic damages. Muscular biopsy may reveal neurogenic amyotrophy. An increasing number of genes have been associated with dHMN. Pathogenesis of dHMN may include formation of protein aggregates, impairment of autophagy pathway, RNA processing, translation synthesis, axonal transport, endoplasmic reticulum stress, calcium channel and neuroprotection. A review for recent progress made on clinical characterization and molecular genetics of dHMN is provided.


Assuntos
Neuropatia Hereditária Motora e Sensorial/genética , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Pesquisa em Genética , Humanos
9.
BMC Med Ethics ; 20(1): 85, 2019 11 27.
Artigo em Inglês | MEDLINE | ID: mdl-31771574

RESUMO

BACKGROUND: Past studies emphasized the possible cultural influence on attitudes regarding reprogenetics and reproductive risks among medical students who are taken to be "future physicians." These studies were crafted in order to enhance the knowledge and expand the boundaries of cultural competence. Yet such studies were focused on MS from relatively marginalized cultures, namely either from non-Western developing countries or minority groups in developed countries. The current study sheds light on possible cultural influences of the dominant culture on medical students in two developed countries, potentially with different dominant cultures regarding reprogenetics and reproductive risks: Israel and Croatia. METHODS: Quantitative-statistical analyses were employed, based on anonymous questionnaires completed by 150 first year medical students in Israel and Croatia. The questionnaires pertained to the knowledge and attitudes regarding genetics, reproduction and reproductive risks. These questionnaires were completed before the students were engaged in learning about these topics as part of the curriculum in their medical school. RESULTS: Substantial differences were revealed between the two groups of medical students. Israeli medical students were less tolerant regarding reproductive risks and more knowledgeable about genetics and reproductive risks than Croatian medical students. For example, while nearly all Israeli medical students (96%) disagreed with the idea that "Screening for reproductive risks in prospective parents is wrong," less than 40% of their Croatian counterparts shared a similar stance. Similarly, all (100%) Israeli medical students correctly observed that "A carrier of a recessive genetic disease actually has the disease" was wrong, as opposed to only 82% of Croatian students. CONCLUSIONS: By linking applicable theoretical literature to these findings, we suggest that they may reflect the hidden influence of the dominant culture in each country, disguised as part of the "culture of medicine." Acknowledging and learning about such influence of the dominant culture, may be an important addition to the training of medical students in cultural competence, and specifically their cultural awareness. Such an acknowledgement may also pave the road to drawing the attention of existing physicians regarding a less known yet an important aspect of their cultural competence, insofar as the cultural awareness component is concerned.


Assuntos
Competência Cultural , Pesquisa em Genética/ética , Testes Genéticos/ética , Técnicas de Reprodução Assistida/ética , Estudantes de Medicina/psicologia , Adulto , Conscientização , Croácia , Diversidade Cultural , Feminino , Aconselhamento Genético/ética , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Israel , Masculino , Diagnóstico Pré-Implantação/ética , Estudos Prospectivos , Fatores Socioeconômicos , Adulto Jovem
10.
BMC Med Ethics ; 20(1): 84, 2019 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-31752834

RESUMO

BACKGROUND: Citizen science is increasingly prevalent in the biomedical sciences, including the field of human genomics. Genomic citizen science initiatives present new opportunities to engage individuals in scientific discovery, but they also are provoking new questions regarding who owns the outputs of the research, including intangible ideas and discoveries and tangible writings, tools, technologies, and products. The legal and ethical claims of participants to research outputs become stronger-and also more likely to conflict with those of institution-based researchers and other stakeholders-as participants become more involved, quantitatively and qualitatively, in the research process. It is not yet known, however, how genomic citizen science initiatives are managing the interests of their participants in accessing and controlling research outputs in practice. To help fill this gap, we conducted an in-depth review of relevant policies and practices of U.S.-based genomic citizen science initiatives. METHODS: We queried the peer-reviewed literature and grey literature to identify 22 genomic citizen science initiatives that satisfied six inclusion criteria. A data collection form was used to capture initiative features, policies, and practices relevant to participants' access to and control over research outputs. RESULTS: This analysis revealed that the genomic citizen science landscape is diverse and includes many initiatives that do not have institutional affiliations. Two trends that are in apparent tension were identified: commercialization and operationalization of a philosophy of openness. While most initiatives supported participants' access to research outputs, including datasets and published findings, none supported participants' control over results via intellectual property, licensing, or commercialization rights. However, several initiatives disclaimed their own rights to profit from outputs. CONCLUSIONS: There are opportunities for citizen science initiatives to incorporate more features that support participants' access to and control over research outputs, consistent with their specific objectives, operations, and technical capabilities.


Assuntos
Ciência do Cidadão/ética , Pesquisa em Genética/ética , Genômica/ética , Propriedade/ética , Testes Genéticos/ética , Humanos , Propriedade Intelectual , Políticas
11.
Ethics Hum Res ; 41(6): 12-22, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31743628

RESUMO

Public trust in research depends on implementation of research protections. Genetic and psychiatric research may elicit "exceptionalism," the belief that these types of research deserve special protections. Genetic information has been viewed as different from other health information. Psychiatric research has been scrutinized based on concerns about the impact of psychiatric illness on individuals' abilities to make decisions. This study compared four stakeholder groups' attitudes toward research safeguards. Psychiatric genetic researchers and institutional review board chairs received structured surveys. Individuals with mental illness and family members participated in semistructured interviews. Paired sample t-tests were used to compare mean ratings of importance of safeguard procedures for genetic versus nongenetic research on physical versus mental illnesses. All groups provided higher ratings for the importance of safeguards for genetic research and for mental illness. Individuals with mental illness and family members rated the importance of safeguards more highly than researchers and chairs did. Results of generalized linear models showed significant effects of gender and ethnicity.


Assuntos
Comitês de Ética em Pesquisa/ética , Pesquisa em Genética , Transtornos Mentais/genética , Sujeitos da Pesquisa , Participação dos Interessados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pesquisadores , Inquéritos e Questionários
13.
N Z Med J ; 132(1503): 83-92, 2019 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-31581185

RESUMO

Genomic analysis of tissues from rapid autopsy programmes has transformed our understanding of cancer. However, these programmes are not yet established in New Zealand. Our neuroendocrine tumour research group, NETwork!, received a request from a patient wishing to donate tumour tissues post-mortem. This viewpoint article summarises the ethical, logistical and social process undertaken to accept this patient's generous donation, and highlights the scientific and educational value of such a gift.


Assuntos
Pesquisa em Genética , Neoplasias/genética , Participação do Paciente , Variantes Farmacogenômicos , Manejo de Espécimes , Bancos de Tecidos , Protocolos Clínicos , Bases de Dados Genéticas , Heterogeneidade Genética , Humanos , Neoplasias/terapia , Nova Zelândia , Participação do Paciente/legislação & jurisprudência , Participação do Paciente/métodos , Manejo de Espécimes/ética , Manejo de Espécimes/métodos , Bancos de Tecidos/ética , Bancos de Tecidos/legislação & jurisprudência , Bancos de Tecidos/organização & administração
15.
BMC Med Ethics ; 20(1): 69, 2019 10 18.
Artigo em Inglês | MEDLINE | ID: mdl-31623617

RESUMO

In the past decade, there has been an increase in genomic research and biobanking activities in Africa. Research initiatives such as the Human Heredity and Health in Africa (H3Africa) Consortium are contributing to the development of scientific capacity and infrastructure to support these studies on the continent. Despite this growth, genomic research and biobanking have raised important ethical challenges for key research stakeholders, including members of research ethics committees. One of these is the limited ethical and regulatory frameworks to guide the review and conduct of genomic studies, particularly in Africa. This paper is a reflection on a series of consultative activities with research ethics committees in Africa which informed the development of an ethics and governance framework for best practices in genomic research and biobanking in Africa. The paper highlights the engagement process and the lessoned learned.


Assuntos
Bancos de Espécimes Biológicos/ética , Comitês de Ética em Pesquisa/ética , Pesquisa em Genética/ética , África , Bancos de Espécimes Biológicos/normas , Participação da Comunidade , Humanos , Participação dos Interessados
16.
Hum Genet ; 138(11-12): 1237-1246, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31531740

RESUMO

Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants were most likely to trust their medical doctor and less likely to trust other entities named. Company researchers were least likely to be trusted. Low, Variable and High Trust classes were defined using latent class analysis. Members of the High Trust class were more likely to be under 50 years, male, with children, hold religious beliefs, have personal experience of genetics and be from the USA. They were most likely to be willing to donate their genomic and health data for clinical and research uses. The Low Trust class were less reassured than other respondents by laws preventing exploitation of donated information. Variation in trust, its relation to areas of concern about the use of genomic data and potential of legislation are considered. These findings have relevance for efforts to expand genomic medicine and data sharing beyond those with personal experience of genetics or research participants.


Assuntos
Bases de Dados Genéticas/normas , Pesquisa em Genética , Genômica/ética , Disseminação de Informação/ética , Confiança , Adolescente , Adulto , Austrália , Canadá , Criança , Estudos Transversais , Feminino , Genômica/métodos , Humanos , Disseminação de Informação/métodos , Masculino , Pessoa de Meia-Idade , Reino Unido , Estados Unidos , Adulto Jovem
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